LGMDD1
MCID: MSC175
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 (LGMDD1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 58 76
Lgmd1e 58 54 60 76
Lgmd1d 12 54 60 76
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 54 60
Muscular Dystrophy, Limb-Girdle, Type 1e 58 76 13
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 54 60
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 12 15
Limb-Girdle Muscular Dystrophy Type 1d 54 76
Lgmdd1 58 76
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 58
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 41
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 58
Muscular Dystrophy, Limb-Girdle, Type 1e; Lgmd1e 58
Muscular Dystrophy, Limb-Girdle, Type 1d 76
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 54
Limb-Girdle Muscular Dystrophy 1e 76
Lgmd1d, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;
autosomal dominant limb-girdle muscular dystrophy type 1e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adult)
most patients become wheelchair-bound after 20 to 30 years


HPO:

33
muscular dystrophy, limb-girdle, autosomal dominant 1:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

OMIM : 58 Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015). (603511)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1, also known as lgmd1e, is related to myopathy, myofibrillar, 3 and myopathy, myofibrillar, 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, and related phenotypes are generalized muscle weakness and dysarthria

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal dominant 1: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 32.9 DNAJB6 MYOT
2 myopathy, myofibrillar, 1 32.1 DES MYOT
3 muscular dystrophy, limb-girdle, type 1h 31.8 DNAJB6 MYOT TNPO3
4 myopathy 30.3 CAV3 DES MYOT
5 miyoshi muscular dystrophy 30.0 CAV3 MYOT
6 limb-girdle muscular dystrophy 28.9 CAV3 DNAJB6 MYOT SGCB SGCG TNPO3
7 muscular dystrophy 27.5 CAV3 DES DNAJB6 GMPPB LIMS2 MYOT
8 muscular dystrophy, limb-girdle, autosomal dominant 2 11.1
9 muscular dystrophy, limb-girdle, autosomal dominant 3 11.1
10 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 MYOT SGCB
11 central core disease of muscle 10.1 DES MYOT
12 muscle disorders 10.1
13 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 DNAJB6 MYOT TNPO3
14 myopathy, spheroid body 10.1 DES DNAJB6 MYOT
15 autosomal recessive limb-girdle muscular dystrophy 10.1 CAV3 SGCG
16 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 TNPO3 TRAPPC11
17 myofibrillar myopathy 10.1 DES DNAJB6 MYOT
18 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 SGCB SGCG
19 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 SGCB SGCG
20 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 SGCB SGCG
21 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 TNPO3 TRAPPC11
22 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 TNPO3 TRAPPC11
23 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 MYOT SGCB SGCG
24 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 MYOT SGCB SGCG
25 neuromuscular disease 9.9 DES MYOT
26 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 SGCB SGCG
27 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9 CAV3 MYOT SGCB
28 myopathy, autosomal recessive, with rigid spine and distal joint contractures 9.9 SGCB TRAPPC11
29 muscle tissue disease 9.8 CAV3 MYOT SGCG
30 autosomal dominant limb-girdle muscular dystrophy 9.8 CAV3 DNAJB6 MYOT TNPO3
31 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAV3 SGCB SGCG
32 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 DNAJB6 MYOT SGCB SGCG
33 autosomal recessive limb-girdle muscular dystrophy type 2w 9.6 GMPPB TNPO3 TRAPPC11
34 muscular dystrophy-dystroglycanopathy , type c, 9 9.6 GMPPB TNPO3 TRAPPC11
35 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 GMPPB TNPO3 TRAPPC11
36 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 GMPPB TNPO3 TRAPPC11
37 muscular disease 9.0 CAV3 DNAJB6 GMPPB MYOT SGCB SGCG

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
4 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
5 difficulty climbing stairs 60 33 frequent (33%) Frequent (79-30%) HP:0003551
6 rimmed vacuoles 60 33 occasional (7.5%) Occasional (29-5%) HP:0003805
7 myofibrillar myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003715
8 loss of ability to walk 60 33 occasional (7.5%) Occasional (29-5%) HP:0006957
9 fatty replacement of skeletal muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0012548
10 skeletal muscle fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0030951
11 facial palsy 33 occasional (7.5%) HP:0010628
12 flexion contracture 33 occasional (7.5%) HP:0001371
13 dyspnea 33 occasional (7.5%) HP:0002094
14 bulbar palsy 33 occasional (7.5%) HP:0001283
15 percussion myotonia 60 33 very rare (1%) Very rare (<4-1%) HP:0010548
16 waddling gait 33 HP:0002515
17 pelvic girdle muscle weakness 33 HP:0003749
18 abnormality of muscle fibers 60 Very rare (<4-1%)
19 muscular dystrophy 33 HP:0003560
20 gowers sign 33 HP:0003391
21 shoulder girdle muscle weakness 33 HP:0003547
22 muscle fiber splitting 33 HP:0003555
23 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
waddling gait
rimmed vacuoles
gowers sign
difficulty climbing stairs
shoulder girdle muscle weakness
more
Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Face:
facial weakness (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
contractures (in some patients)

Respiratory:
respiratory difficulties, later onset (in some patients)
dyspnea (in some patients)

Clinical features from OMIM:

603511

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAV3 DES LIMS2 SGCB SGCG

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

42
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

# Title Authors Year
1
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

76
# Symbol AA change Variation ID SNP ID
1 DNAJB6 p.Phe89Ile VAR_067833 rs387907150
2 DNAJB6 p.Phe93Leu VAR_067834 rs387907046
3 DNAJB6 p.Pro96Arg VAR_067835 rs387907047

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh37 Chromosome 7, 157160108: 157160108
2 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh38 Chromosome 7, 157367414: 157367414
3 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh37 Chromosome 7, 157160118: 157160118
4 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh38 Chromosome 7, 157367424: 157367424
5 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
6 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
7 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
8 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
9 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh37 Chromosome 7, 157160096: 157160096
10 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh38 Chromosome 7, 157367402: 157367402
11 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh37 Chromosome 7, 157160129: 157160129
12 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh38 Chromosome 7, 157367435: 157367435
13 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh37 Chromosome 7, 157160102: 157160102
14 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh38 Chromosome 7, 157367408: 157367408
15 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh38 Chromosome 7, 157367410: 157367410
16 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh37 Chromosome 7, 157160104: 157160104
17 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh38 Chromosome 7, 157367488: 157367488
18 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh37 Chromosome 7, 157160182: 157160182
19 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh38 Chromosome 7, 157416010: 157416010
20 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh37 Chromosome 7, 157208704: 157208704
21 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
22 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
23 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Benign/Likely benign rs147168661 GRCh37 Chromosome 7, 157208772: 157208772
24 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Benign/Likely benign rs147168661 GRCh38 Chromosome 7, 157416078: 157416078
25 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh37 Chromosome 7, 157151314: 157151314
26 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh38 Chromosome 7, 157358620: 157358620
27 DNAJB6 NM_058246.3(DNAJB6): c.947C> G (p.Ser316Trp) single nucleotide variant Uncertain significance rs371304535 GRCh37 Chromosome 7, 157208758: 157208758
28 DNAJB6 NM_058246.3(DNAJB6): c.947C> G (p.Ser316Trp) single nucleotide variant Uncertain significance rs371304535 GRCh38 Chromosome 7, 157416064: 157416064
29 DNAJB6 NM_058246.3(DNAJB6): c.230G> T (p.Gly77Val) single nucleotide variant Uncertain significance rs372973038 GRCh37 Chromosome 7, 157159250: 157159250
30 DNAJB6 NM_058246.3(DNAJB6): c.230G> T (p.Gly77Val) single nucleotide variant Uncertain significance rs372973038 GRCh38 Chromosome 7, 157366556: 157366556
31 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh37 Chromosome 7, 157208773: 157208773
32 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh38 Chromosome 7, 157416079: 157416079
33 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh37 Chromosome 7, 157177684: 157177684
34 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh38 Chromosome 7, 157384990: 157384990
35 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh37 Chromosome 7, 157202657: 157202657
36 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh38 Chromosome 7, 157409963: 157409963
37 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh37 Chromosome 7, 157208759: 157208759
38 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh38 Chromosome 7, 157416065: 157416065
39 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh37 Chromosome 7, 157202503: 157202503
40 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh38 Chromosome 7, 157409809: 157409809
41 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh37 Chromosome 7, 157202654: 157202654
42 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh38 Chromosome 7, 157409960: 157409960
43 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh37 Chromosome 7, 157177708: 157177708
44 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh38 Chromosome 7, 157385014: 157385014
45 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance rs1554458350 GRCh37 Chromosome 7, 157160084: 157160084
46 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance rs1554458350 GRCh38 Chromosome 7, 157367390: 157367390
47 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign rs1252030610 GRCh38 Chromosome 7, 157409904: 157409904
48 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign rs1252030610 GRCh37 Chromosome 7, 157202598: 157202598
49 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh38 Chromosome 7, 157409902: 157409902
50 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh37 Chromosome 7, 157202596: 157202596

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 DES SGCB SGCG
2
Show member pathways
11.04 DES SGCB SGCG

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.4 CAV3 DES
2 intercalated disc GO:0014704 9.37 CAV3 DES
3 dystrophin-associated glycoprotein complex GO:0016010 9.32 CAV3 SGCB
4 sarcoglycan complex GO:0016012 9.26 SGCB SGCG
5 Z disc GO:0030018 9.26 CAV3 DES DNAJB6 MYOT
6 dystroglycan complex GO:0016011 9.16 SGCB SGCG
7 sarcolemma GO:0042383 9.02 CAV3 DES MYOT SGCB SGCG
8 cytoplasm GO:0005737 10.03 CAV3 DES DNAJB6 GMPPB MYOT SGCB

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.33 CAV3 DES MYOT
2 regulation of heart contraction GO:0008016 9.32 CAV3 DES
3 intermediate filament organization GO:0045109 9.26 DES DNAJB6
4 muscle organ development GO:0007517 9.13 CAV3 SGCB SGCG
5 cardiac muscle cell development GO:0055013 8.62 CAV3 SGCB

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

3 CDC
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10 dbSNP
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17 EFO
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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